T67I (p.Thr67Ile) variant of DLG4 (Disks large homolog 4)
T67I (p.Thr67Ile) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes experimental measurements and structural context.
T67I (p.Thr67Ile) variant details
- p.Thr67Ile
- rs2142888003
- ClinGen CA397720221
- ClinVar RCV001760877
- Ensembl rs2142888003
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.45
- MetaLR 0.11
- MetaSVM -1.04
- PolyPhen-2 1.00
- SIFT 0.23
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.104